Results 131 to 140 of about 124,379,666 (230)

In Reply: Type 1 Neurofibromatosis Gene: Correction [PDF]

Science, 1990
M. R. Wallace, D. A. Marchuk, L. B. Andersen, F. S. Collins   +3 more
openaire   +2 more sources

Unraveling Gene Interactions in Patients with Neurofibromatosis Type 1 [PDF]

The Journal of Pediatrics, 2015
Beth A, Pletcher, Caroline, Hayes-Rosen
openaire   +2 more sources

Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1 [PDF]

, 1999
Heterozygous germ-line mutations in the DNA mismatch repair genes lead to hereditary nonpolyposis colorectal cancer. The disease susceptibility of individuals who constitutionally lack both wild-type alleles is unknown. We have identified three offspring
Özçelik, T., Gürgey, A., Uzunalimoǧlu, O., Tuncer, M., Öztürk, M., Tanyeli, A., Erken, E., Çetinkaya, H., Özdaǧ, H., Ricciardone, M. D., Cevher, B.   +10 more
core  

Horner syndrome in neurofibromatosis type 1

, 2015
The authors report a rare case of Horner syndrome in a patient with neurofibromatosis type 1 (NF-1). A 31-year-old man visited the clinic with drooping left eyelid.
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core   +1 more source

Correlation between large rearrangements and patient phenotypes in NF1 deletion syndrome: an update and review

BMC Medical Genomics
About 5–10% of neurofibromatosis type 1 (NF1) patients exhibit large genomic germline deletions that remove the NF1 gene and its flanking regions. The most frequent NF1 large deletion is 1.4 Mb, resulting from homologous recombination between two low ...
Laurence Pacot, Milind Girish, Samantha Knight, Gill Spurlock, Vinod Varghese, Manuela Ye, Nick Thomas, Eric Pasmant, Meena Upadhyaya   +8 more
doaj   +1 more source

Neurofibromatosis type 1 in a child of a parent with segmental neurofibromatosis (NF-5)

, 1989
Neurofibromatosis type 1 (NF-1) was incidentally diagnosed in a 1-year-old girl. Her father was found to show the cutaneous signs of segmental neurofibromatosis (NF-5).
Mächler, Marco, Stocker, H, Boltshauser, Eugen; https://orcid.org/   +2 more
core   +1 more source

Neurofibromatosis-1

, 1989
Optic atrophy and hypoplasia of the optic disc associated with chiasmal glioma in a patient with NF-1. Anatomy: Optic disc. Pathology: Chiasmal glioma; Optic atrophy; Hypoplasia. Disease/Diagnosis: Neurofibromatosis type 1.
William F. Hoyt, MD
core  

PERADIGM: Phenotype embedding similarity-based rare disease gene mapping.

PLoS Genetics
Identifying genes associated with rare diseases remains challenging due to the scarcity of patients and the limited statistical power of traditional association methods. Here, we introduce PERADIGM ( Phenotype Embedding similarity-based RAre DIsease Gene
Wangjie Zheng, Yuhan Xie, Jianlei Gu, Hongyu Li, Stefan Somlo, Whitney Besse, Hongyu Zhao   +6 more
doaj   +1 more source

Síndrome de microdeleción en la neurofibromatosis tipo- 1: presentación de un caso [PDF]

, 2011
Neurofibromatosis type-1 is a neuroectodermic genetic condition, where different types of mutations in NF1 gene have been described. Its locus is located at chromosome-17, thousand of genes are mapping, and some of them are found in very near regions ...
Orraca Castillo, Miladys, Sánchez Álvarez de La Campa, Ana Isabel, Licourt Otero, Deysi   +2 more
core  

Effect of implementation of a clinical checklist on the evaluation of constitutional mismatch repair deficiency in a neurofibromatosis clinic. [PDF]

J Community Genet
McDonald B, Ivanovich J, Wetherill L, Walsh L, Vonbergen J, Langsford L, Rhodes SD, Stout LA.   +7 more
europepmc   +1 more source